Driving Impact Beyond the Fairways
- Mom & Dad / Co-Founders
- May 3
- 7 min read
Driving Impact Beyond the Fairways: How Aces Fore Austin Supports Life-Changing Rare Disease Programs and Research
Every swing at Aces Fore Austin carries a purpose far greater than the scorecard. What started as a day of community, connection, and competition has grown into a meaningful driver of impact, fueling awareness, advancing research, and supporting families navigating the challenges of rare disease.
At the heart of the tournament is a simple belief that defines the mission of the Austin 1st
Foundation: awareness leads to understanding, understanding ignites change, and change creates hope. The funds and awareness generated through Aces Fore Austin directly support three critical programs that are making a real difference for patients and families.
Through the COACHES simulation lab at Children’s Hospital of Alabama, the Undiagnosed Disease Program at the University of Alabama at Birmingham, and drug repurposing research through Dr. Jonathan Pruneda's at Oregon Health & Science University, donor support directly fuels life-changing care, provides answers, and gives hope. Every donation, no matter how large or small, advances the mission and expands the impact of these programs for families across Alabama and the nation navigating their rare disease journey.
Advancing Answers Through Undiagnosed Disease Research
For many families affected by rare diseases, the hardest part isn’t just treatment, it’s the unknown. Countless children and adults live without a diagnosis, leaving families searching for answers and direction. For us, it took nearly five years for Austin to receive his actual diagnosis, for a couple years he lived with a working diagnosis of quadriplegia cerebral palsy. This "working diagnosis" allowed his condition to be somewhat recognized by insurance and to receive some of the necessities he needed for his daily care
For several months to nearly a year, we carried Austin everywhere we went. He would slide out of normal strollers, and getting a specialized chair required a medical diagnosis for your insurance to even consider covering it.
That’s where undiagnosed disease research programs step in.
Through partnerships with leading medical institutions like the University of Alabama at Birmingham (UAB), this work brings together geneticists, researchers, and clinicians to study complex cases, often uncovering diagnoses that were previously out of reach. These breakthroughs don’t just provide clarity, they open doors to targeted care, better outcomes, and, in some cases, life-saving interventions.
Impact in action:
Families gain long-awaited answers after years of uncertainty
Research contributes to the global understanding of rare diseases
Patients are connected to more precise care and potential treatments
When “We Don’t Know” Isn’t the Final Answer
For many families, the rare disease journey begins with uncertainty. Symptoms without explanation. Tests without answers. Years of searching for clarity.
The UAB Undiagnosed Diseases Program (UDB) at UAB exists for these families. This program brings together a multidisciplinary team of geneticists, clinicians, and researchers who specialize in solving the most complex medical cases. By combining advanced genetic testing with collaborative clinical expertise, the program works to uncover diagnoses that have remained out of reach, sometimes for years.
And when answers come, everything changes.
Why this matters:
A diagnosis can unlock targeted treatment options
Families gain clarity after long periods of uncertainty
Patients can connect with broader research and clinical trials
This program, and others like it—matter. The day we learned Austin’s diagnosis of an ultra-rare genetic disorder, Anthony was sitting with a team of doctors and the chaplain, while Lindsey was on the phone at home with Austin’s 6-month-old brother, Sullivan. Together, we were facing a serious decision: whether to move forward with a procedure to implant a pump in Austin’s back that would deliver a specific medication continuously and regulate it more precisely.
He was also going on 50+ days in the ICU on a ventilator....decisions were being made with out clarity of what his actual diagnosis was. It is an uneasy feeling to make life threatening decisions about your first born without knowing the underlying issue. The UDP at UAB and their partnership with the Undiagnosed Disease Network is the only reason we were able to receive our diagnosis nearly 4 years earlier than the average patient with a rare disease.
Drug Repurposing Research at OHSU
Austin was on a variety of drugs during his 9-years of life, none of which were designed to treat his ultra-rare disease (UBA5-gene mutation).
Research in the Pruneda Laboratory is focused on identifying a drug therapy that restores the function of the UBA5 gene. Remember, 90% of all rare diseases do not have FDA approved drugs/treatments.
These drugs are being rapidly advanced through further testing, including more complex models of UBA5 developed by St. Jude Children’s Research Hospital that measure the impact of UBA5 on neurological function.
Read more about the advanced research you are helping fuel to create treatments for patients just like Austin.
COACHES Program at Children's of Alabama
Children's of Alabama Community Healthcare Education Simulation (COACHES)
Hospitals across Alabama are better equipped and more connected to additional resources because of the work of the COACHES program. Without philanthropic support, this program would not be able to expand its reach outside the walls of Children’s of Alabama in Birmingham. View the current list of participating hospitals across Alabama here.
Several years ago, in 2017, when Austin was diagnosed and received a tracheotomy to help relieve his breathing issues, the only way we were able to bring him home was by completing two weeks of training in the simulation lab at Children’s. That simulation lab prepares parents and caregivers in a variety of ways to properly and confidently care for their loved ones.
The lifelike simulation dolls used in training can cost upwards of $10,000 or more—and that doesn’t include the staffing, supplies, and resources required to operate a first-class program across the state of Alabama.
How Aces Fore Austin Fuels This Impact
Support from Aces Fore Austin helps ensure programs like these can continue their work and expand their reach.
That support helps:
Fund cutting-edge research and diagnostic tools
Advance clinical programs that improve patient care
Strengthen collaboration across hospitals and care teams
Provide hope and direction for families seeking answers
It’s a direct connection—from a golf course in May to life-changing moments inside hospitals and research labs across the country.
More Than Programs—It’s About People
At its core, this work is about helping people.
It’s about parents searching for answers for their child. It’s about patients fighting through long hospital stays. It’s about care teams committed to doing everything possible to improve outcomes.
That’s why these programs align so closely with the mission of the Austin 1st Foundation, because creating change in the rare disease community means showing up for families in every phase of their journey.
Be Part of the Story
Aces Fore Austin is more than an event, it’s a catalyst for impact.
When you participate, sponsor, or support, you’re helping fund programs that:
Turn uncertainty into answers
Improve care for critically ill children
Advance research for rare diseases
Bring hope to families who need it most
Because sometimes, the most powerful moments aren’t measured in strokes or scores…
They’re measured in answers found, breaths regained, and lives changed.
The Heartache and the Joy Behind Our Why
Aces Fore Austin is where many people first connect with our mission, but behind it is something much bigger than a single day or event.
As his mom and dad, we experienced the deepest heartaches, watching our precious boy suffer and knowing there was little we could do to ease his pain. The helplessness we felt was often overwhelming, accompanied by an unending stream of “whys.” Why Austin? Why us? Why this disease? These questions haunted us, sometimes filling us with bitterness and anger. It seemed so unfair for such a pure and innocent life to be marred by such suffering.
Yet, amidst the pain, there was also immense joy. Austin’s smile, his laughter, and his sheer will to live brought us more happiness than we ever imagined possible. The moments of connection, no matter how fleeting, were treasures that we hold dear. His bravery in the face of adversity taught us invaluable lessons about the strength of the human spirit and the power of love.
Faith and Understanding
Our faith in God has been both a comfort and a challenge. It is difficult to reconcile our belief in a loving God with the suffering our son endured. There are times when our faith is tested, and the bitterness threatens to take hold. We do not fully understand why Austin had to suffer as he did, and this uncertainty is a source of ongoing sorrow.
However, we choose to believe that there is a greater purpose beyond our understanding. In our hearts, we hold on to the hope that one day we will comprehend the reasons behind our pain. This faith, though sometimes fragile, provides a beacon of hope in our darkest moments, guiding us toward a future where Austin’s legacy can shine.
Continuing Austin’s Legacy
Continuing Austin’s legacy means different things to each of us. For some, it might be advocating for research into rare diseases, so other families do not have to endure the same heartache. For others, it could be creating a foundation in his name, supporting families facing similar battles. For us, it is about living each day with the same courage and love that Austin showed us.
We strive to infuse our lives with the lessons Austin taught us: to cherish every moment, to love fiercely, and to find joy in the simplest things. His legacy is one of strength, resilience, and an unyielding spirit. By embodying these values, we keep his memory alive and ensure that his life continues to inspire others.
In loving memory of Austin, we choose to remember the joy, the love, and the lessons he imparted. Though his physical presence is no longer with us, his spirit remains, guiding us toward a future filled with hope and purpose. Austin’s life and legacy will forever be a testament to the strength of the human spirit and the enduring power of love.
It is only with gratitude that life becomes rich.
John 13:7 Jesus replied, “You do not realize now what I am doing, but later you will understand.”
Austin 1st Foundation is a 501 (c)(3) Public Charity - See the impact we make and support our mission to be Champions for Rare Disease by raising awareness and research dollars for families in Alabama & beyond.
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